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Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 [ Mus musculus (house mouse) ]

Gene ID: 14585, updated on 31-Jan-2023

Summary

Official Symbol
Gfra1provided by MGI
Official Full Name
glial cell line derived neurotrophic factor family receptor alpha 1provided by MGI
Primary source
MGI:MGI:1100842
See related
Ensembl:ENSMUSG00000025089 AllianceGenome:MGI:1100842
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
GFRalpha-1
Summary
This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
Expression
Broad expression in genital fat pad adult (RPKM 19.8), liver adult (RPKM 7.7) and 15 other tissues See more
Orthologs
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Genomic context

See Gfra1 in Genome Data Viewer
Location:
19 D2; 19 54.18 cM
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (58224013..58444382, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (58235581..58455946, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene attractin like 1 Neighboring gene microRNA 5623 Neighboring gene predicted gene, 50287 Neighboring gene predicted gene, 46650 Neighboring gene predicted gene 10007 Neighboring gene VISTA enhancer mm445 Neighboring gene VISTA enhancer mm916 Neighboring gene predicted gene, 41876 Neighboring gene predicted gene, 33306

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (12)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables integrin binding ISO
Inferred from Sequence Orthology
more info
 
enables neurotrophin receptor activity ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 
located_in extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
part_of plasma membrane protein complex ISO
Inferred from Sequence Orthology
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of receptor complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
GDNF family receptor alpha-1
Names
GDNF receptor alpha 1 (GFRa-1)
GDNF receptor alpha 1c
GDNF receptor alpha 1d
GDNF receptor alpha 1e
GDNFR-alpha-1
GFR alpha-1
TGF-beta-related neurotrophic factor receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001285457.3NP_001272386.1  GDNF family receptor alpha-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001272386.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR and lacks an exon in the central coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC102457, AC102610
    Consensus CDS
    CCDS70967.1
    UniProtKB/Swiss-Prot
    P97785
    Related
    ENSMUSP00000117196.2, ENSMUST00000129100.8
    Conserved Domains (2) summary
    smart00907
    Location:149228
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:238332
    GDNF; GDNF/GAS1 domain
  2. NM_001410348.1NP_001397277.1  GDNF family receptor alpha-1 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC102457, AC102610
  3. NM_010279.4NP_034409.1  GDNF family receptor alpha-1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_034409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC102457, AC102610
    Consensus CDS
    CCDS38028.1
    UniProtKB/Swiss-Prot
    O35252, P97785
    Related
    ENSMUSP00000026076.8, ENSMUST00000026076.14
    Conserved Domains (2) summary
    smart00907
    Location:154233
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:243337
    GDNF; GDNF/GAS1 domain

RNA

  1. NR_104342.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon at the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC102457, AC102610

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    58224013..58444382 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030250753.2XP_030106613.1  GDNF family receptor alpha-1 isoform X2

    Conserved Domains (2) summary
    smart00907
    Location:149228
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:238332
    GDNF; GDNF/GAS1 domain
  2. XM_006526681.2XP_006526744.1  GDNF family receptor alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_006526744.1

    UniProtKB/Swiss-Prot
    O35252, P97785
    Conserved Domains (2) summary
    smart00907
    Location:154233
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:243337
    GDNF; GDNF/GAS1 domain
  3. XM_006526682.1XP_006526745.1  GDNF family receptor alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_006526745.1

    UniProtKB/Swiss-Prot
    O35252, P97785
    Conserved Domains (2) summary
    smart00907
    Location:154233
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:243337
    GDNF; GDNF/GAS1 domain
  4. XM_006526684.1XP_006526747.1  GDNF family receptor alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_006526747.1

    UniProtKB/Swiss-Prot
    O35252, P97785
    Conserved Domains (2) summary
    smart00907
    Location:154233
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:243337
    GDNF; GDNF/GAS1 domain
  5. XM_006526683.5XP_006526746.1  GDNF family receptor alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_006526746.1

    UniProtKB/Swiss-Prot
    O35252, P97785
    Related
    ENSMUSP00000130128.2, ENSMUST00000169850.8
    Conserved Domains (2) summary
    smart00907
    Location:154233
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:243337
    GDNF; GDNF/GAS1 domain